MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Ophthalmoparesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		0.010 Biomarker phenotype BEFREE Some investigators have divided AR CNM into 3 subgroups: 1) an early-onset form with ophthalmoparesis, 2) an early-onset form without ophthalmoparesis, and 3) a late-onset form without ophthalmoparesis. 16042307 2005